BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Seminoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359584
rs80359584 		0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.700 0